Variant report

Variant	rs79327808
Chromosome Location	chr6:15249240-15249241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:15249183-15249466	HepG2	liver:	n/a	n/a
2	GATA3	chr6:15248703-15249507	MCF-7	breast:	n/a	chr6:15249307-15249317
3	TAF1	chr6:15248675-15249468	H1-neurons	neurons:	n/a	n/a
4	CREB1	chr6:15248713-15249263	ECC-1	luminal epithelium:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
5	TAF1	chr6:15249129-15249490	Hela-S3	cervix:	n/a	n/a
6	MAX	chr6:15248652-15249654	HCT-116	colon:	n/a	n/a
7	RFX5	chr6:15248788-15249521	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr6:15247900-15249524	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:15248962-15249742	GM12892	blood:	n/a	n/a
10	ELF1	chr6:15248664-15249712	GM12878	blood:	n/a	n/a
11	ARID3A	chr6:15248850-15249511	HepG2	liver:	n/a	n/a
12	TCF3	chr6:15248601-15249348	GM12878	blood:	n/a	chr6:15248713-15248727
13	POLR2A	chr6:15247950-15249674	H1-neurons	neurons:	n/a	n/a
14	ATF2	chr6:15248700-15249611	GM12878	blood:	n/a	chr6:15248837-15248851
15	BRCA1	chr6:15248771-15249972	Hela-S3	cervix:	n/a	n/a
16	YY1	chr6:15249064-15249241	K562	blood:	n/a	n/a
17	CREB1	chr6:15247870-15249858	GM12878	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
18	MYC	chr6:15248664-15249274	MCF-7	breast:	n/a	n/a
19	EGR1	chr6:15248523-15249389	ECC-1	luminal epithelium:	n/a	chr6:15248699-15248709 chr6:15248871-15248885 chr6:15248697-15248710 chr6:15249308-15249317
20	POLR2A	chr6:15248696-15249648	HL-60	blood:	n/a	n/a
21	POLR2A	chr6:15249072-15249268	A549	lung:	n/a	n/a
22	CTCF	chr6:15249220-15249370	HEK293	kidney:	n/a	n/a
23	CREB1	chr6:15248096-15249493	A549	lung:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
24	MYC	chr6:15249146-15249356	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:15249240-15249390	AG04450	lung:	n/a	n/a
26	CEBPD	chr6:15248668-15249399	HepG2	liver:	n/a	n/a
27	MAX	chr6:15248705-15249672	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr6:15249220-15249370	HMF	breast:	n/a	n/a
29	CREB1	chr6:15248155-15249672	HepG2	liver:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
30	CREB1	chr6:15247845-15250008	K562	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
31	TBL1XR1	chr6:15248758-15249490	K562	blood:	n/a	n/a
32	HDAC2	chr6:15248763-15249343	H1-hESC	embryonic stem cell:	n/a	n/a
33	PAX5	chr6:15248703-15249473	GM12878	blood:	n/a	chr6:15249308-15249317 chr6:15249362-15249381 chr6:15249305-15249314
34	CREB1	chr6:15248715-15249259	ECC-1	luminal epithelium:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
35	CTCF	chr6:15249180-15249330	HUVEC	blood vessel:	n/a	chr6:15249189-15249198
36	YY1	chr6:15248645-15249373	HepG2	liver:	n/a	chr6:15248723-15248737
37	MAX	chr6:15247952-15249665	HepG2	liver:	n/a	n/a
38	SMARCB1	chr6:15248060-15249597	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:15248023-15249417	K562	blood:	n/a	n/a
40	CTCF	chr6:15249187-15249369	A549	lung:	n/a	chr6:15249189-15249198
41	CTCF	chr6:15249069-15249404	K562	blood:	n/a	chr6:15249189-15249198
42	CTCF	chr6:15249140-15249290	SAEC	small airway:	n/a	chr6:15249189-15249198
43	EP300	chr6:15249225-15249415	GM12878	blood:	n/a	chr6:15249305-15249319
44	MTA3	chr6:15249165-15249863	GM12878	blood:	n/a	n/a
45	FOXA2	chr6:15248666-15249258	A549	lung:	n/a	n/a
46	CTCF	chr6:15249200-15249350	SAEC	small airway:	n/a	n/a
47	POLR2A	chr6:15249087-15249364	H1-hESC	embryonic stem cell:	n/a	n/a
48	MTA3	chr6:15248694-15250134	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:15248683-15249440	HUVEC	blood vessel:	n/a	n/a
50	MXI1	chr6:15248838-15250074	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:15085986..15094450-chr6:15243173..15249347,32	MCF-7	breast:
2	chr6:15248659..15249502-chr6:18155621..18156172,2	Hela-S3	cervix:
3	chr6:15248895..15250425-chr6:16129384..16130957,2	K562	blood:
4	chr18:57566476..57568620-chr6:15247479..15249980,2	K562	blood:
5	chr6:15248004..15250330-chr6:15324617..15327935,3	K562	blood:
6	chr6:15087836..15090279-chr6:15247303..15249952,4	K562	blood:
7	chr10:103577822..103578398-chr6:15249181..15249836,2	Hela-S3	cervix:
8	chr6:15087697..15092455-chr6:15243972..15249952,11	K562	blood:
9	chr6:15247440..15249791-chr6:15324617..15327427,3	K562	blood:

Variant related genes	Relation type
ENSG00000271888	TF binding region
JARID2-AS1	TF binding region
ENSG00000234261	Chromatin interaction
ENSG00000141682	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000201519	Chromatin interaction
ENSG00000165097	Chromatin interaction
ENSG00000007944	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1818166	chr6:15247393-15250052	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3426622	chr6:15247498-15250346	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3511820	chr6:15247723-15249971	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3511821	chr6:15247723-15249971	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3437390	chr6:15248023-15249771	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15243600-15250200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:15244000-15250000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:15244200-15249400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:15244200-15249800	Active TSS	Rectal Smooth Muscle	rectum
5	chr6:15244400-15249400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:15244400-15249600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr6:15244400-15250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:15244400-15250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:15244600-15249400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:15244600-15249400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:15244600-15249400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:15244600-15249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:15244600-15249400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:15244600-15249400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:15244600-15249400	Active TSS	Brain Anterior Caudate	brain
16	chr6:15244600-15249400	Active TSS	Fetal Intestine Large	intestine
17	chr6:15244600-15249400	Active TSS	Thymus	Thymus
18	chr6:15244600-15249400	Active TSS	HSMM	muscle
19	chr6:15244600-15249600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:15244600-15249600	Active TSS	Brain Angular Gyrus	brain
21	chr6:15244600-15249600	Active TSS	Right Ventricle	heart
22	chr6:15244600-15249800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:15244600-15249800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:15244600-15249800	Active TSS	Ovary	ovary
25	chr6:15244600-15249800	Active TSS	Psoas Muscle	Psoas
26	chr6:15244600-15250000	Active TSS	NHLF	lung
27	chr6:15244600-15250200	Active TSS	A549	lung
28	chr6:15244600-15250400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr6:15244800-15249400	Active TSS	Brain Substantia Nigra	brain
30	chr6:15244800-15249400	Active TSS	Fetal Kidney	kidney
31	chr6:15244800-15249400	Active TSS	Fetal Lung	lung
32	chr6:15244800-15249400	Active TSS	Lung	lung
33	chr6:15244800-15249600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:15244800-15249600	Active TSS	Gastric	stomach
35	chr6:15244800-15249600	Active TSS	HSMMtube	muscle
36	chr6:15244800-15249800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:15244800-15249800	Active TSS	Aorta	Aorta
38	chr6:15244800-15249800	Active TSS	Esophagus	oesophagus
39	chr6:15244800-15250000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:15245000-15249400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:15245000-15249400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:15245000-15249400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:15245000-15249400	Active TSS	Brain Cingulate Gyrus	brain
44	chr6:15245000-15249400	Active TSS	Fetal Intestine Small	intestine
45	chr6:15245000-15249400	Active TSS	Fetal Stomach	stomach
46	chr6:15245000-15249400	Active TSS	Hela-S3	cervix
47	chr6:15245000-15249600	Active TSS	Small Intestine	intestine
48	chr6:15245000-15250000	Active TSS	Colonic Mucosa	Colon
49	chr6:15245000-15250800	Active TSS	GM12878-XiMat	blood
50	chr6:15245000-15251000	Active TSS	Primary T helper cells PMA-I stimulated	--

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